Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 1:229431558 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM012326 ; PhenCode ACTA1:c.1075A>C (T/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 8 HGVS names - Hide

1:g.229431558T>G
ENST00000366683.3:c.706A>C
ENSP00000355644.3:p.Ile236Leu
ENST00000366684.7:c.1075A>C
ENSP00000355645.3:p.Ile359Leu
LRG_429:g.7539A>C
LRG_429t1:c.1075A>C
LRG_429p1:p.Ile359Leu

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays